Hi I was wondering if anyone has heard of STRA6 gene? My children are being tested for it. Doctors think it may be the reason I have 2 children with CDH and one with Micro/ana (small eye and no eye) TIA
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Hi I was wondering if anyone has heard of STRA6 gene? My children are being tested for it. Doctors think it may be the reason I have 2 children with CDH and one with Micro/ana (small eye and no eye) TIA
Very interesting. Have you also participated in the 3 big well known CDH genetic studies too? This may be of interest to them too. I have not heard about this gene, but I could give you the contacts for the 3 big studies and I am sure they would talk with you too. See what they say.
Here is what I found...
UniProtKB/Swiss-Prot: STRA6_HUMAN, Q9BX79
Function: May act as a high-affinity cell-surface receptor for the complex retinol-retinol binding protein (RBP/RBP4).
Acts by removing retinol from RBP/RBP4 and transports it across the plasma membrane, where it can be metabolized. This
mechanism does not depend on endocytosis. Binds to RBP/RBP4 with high affinity. Increases cellular retinol uptake from
the retinol-RBP complex (By similarity)
Apparently it is located on the 15th chromosome...
http://www.genecards.org/cgi-bin/carddisp.pl?gene=STRA6
Hope that helps!
Shelly Moore